Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS).
In this report, we present data as assessed by the DNHS to support the prevalence of neurodevelopmental needs in young boys with DMD. To our knowledge, this is the first prospectively collected data of neurodevelopmental needs from a large well-characterized, internationally representative cohort of young boys with DMD. We also stratified boys with DMD mutations into three sub-categories based on DMD mutations likely to affect the dystrophin dp140 isoform to characterize in greater detail the neurodevelopmental needs in this cohort. By contrast, both Felisari et al.16 and Bardoni et al.17 evaluated cognitive impairment bas...
Source: PLOS Currents Muscular Dystrophy - October 17, 2018 Category: Neurology Authors: Mathula Thangarajh Source Type: research

Exploratory Profiling of Urine MicroRNAs in the dy2J/dy2J Mouse Model of LAMA2-CMD: Relation to Disease Progression
In this study we aimed at profiling miRNA expression in urine from dy2J/dy2J mice to assess their potential for monitoring disease progression. Three distinct time points (three, four and six weeks of age) were chosen to represent asymptomatic, initial symptoms and established disease, respectively. Here we show that distinct sets of miRNA characterise each time point whilst CK fails to differentiate between them. MATERIALS AND METHODS Ethics Statement Wild-type and dy2J/dy2J (B6.WK-Lama2dy-2J/J) mice were purchased from Jackson laboratory and bred in the Biomedical Center according to institutional animal care guid...
Source: PLOS Currents Muscular Dystrophy - August 27, 2018 Category: Neurology Authors: Bernardo Moreira Soares Oliveira Source Type: research

Health Care Transition Experiences of Males with Childhood-onset Duchenne and Becker Muscular Dystrophy: Findings from the Muscular Dystrophy Surveillance Tracking and Research Network (Md Starnet) Health Care Transitions and Other Life Experiences Survey
In this study only 1 in 4 males reported having a written summary to assist in the transition from a pediatric health care provider to an adult health care provider. Approximately 2 out of every 3 males aged 19-30 years reported ever changing a health care provider because their doctor only provided care for children, indicating that the majority of young men with DMD are making a health care transition to adult providers. The lack of written summary may be due to a lack of care coordination services. In this study, approximately 1 in 10 males had a primary care office and fewer than 1 in 3 males had a neuromuscular office...
Source: PLOS Currents Muscular Dystrophy - August 21, 2018 Category: Neurology Authors: Pangaja Paramsothy Source Type: research

[CNN/LIVE] Watch France vs. Croatia FIFA WORLD CUP 2018 Live Streaming
5 min ago.France vs. Croatia in 4K:to watch, stream World Cup final in UHD ..The 2018 World Cup final Online is upon us. Kicking off on Sunday at 11 a.m. ET Free, favored France takes on huge underdog Croatia in one of the most …France vs. Croatia: How to watch the World Cup final on TV and online. France and Croatia meet in the FIFA World Cup 2018 final. … PT, Fox and Telemundo), but the main attraction, the World Cup final, is on Sunday morning here in the US. With its young stars Antoine Griezmann, Kylian Mbappé, Paul Pogba and N’Golo Kante and an extra day of rest (and no …World Cup 2018: How to Watch France v...
Source: PLOS Currents Muscular Dystrophy - July 15, 2018 Category: Neurology Authors: gregory_randolph at meei.harvard.edu Tags: Uncategorized Source Type: research

A Pilot Survey Study of Adherence to Care Considerations for Duchenne Muscular Dystrophy
Conclusion This study showed adherence to many of the assessments and interventions suggested in the Care Considerations. The areas showing less consistency could be classified as derived from expert opinion with little supporting data. Improvement in the implementation of all aspects of recommended care requires continued study into the health impact of the proposed recommendations and continued advocacy for coverage by agencies. Corresponding Author Kristin Conway, PhD, Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa 52240, USA; Telephone: 319-335-4641 Email: kristin-caspe...
Source: PLOS Currents Muscular Dystrophy - May 11, 2018 Category: Neurology Authors: kmcaspers Source Type: research

Greater Colo-Rectal Activation Phenotype in Exercised mdx Mice
CONCLUSIONS Irrespective of the underlying mechanisms, this study provides evidence that dystrophic mice show alterations in gastrointestinal function that are easily measured by imposition of a low impact procedure. The size and consistency of the difference between dystrophic and normal mice of the two strains we have tested provides a clear and sensitive signal with little or no overlap, and also emphasizes the need to test any given dystrophin mutation against its background strain of origin. We therefore propose the exercise­induced Colo­-Rectal Activation Phenotype (CRAP) test as a simple, non­invasive biomarker t...
Source: PLOS Currents Muscular Dystrophy - May 2, 2018 Category: Neurology Authors: mnearing Source Type: research

Are Soy Products Effective in DMD?
Conclusion From the data obtained in this study, we saw no beneficial effect of Haelan 951 or isoflavones, and only Bowman-Birk Inhibitor alone produced any significant improvement in muscle function. Further studies into the dose-activity relationship of BBI and isoflavones in mdx mice are therefore clearly warranted. Competing Interests Statement G Marston declares that no competing interests exist. SJ Winder is a member of the Editorial Board of PLOS Currents Muscular Dystrophy. However he he took no part in the peer review or editorial decision making with respect to this manuscript. Data Availability Statement Metad...
Source: PLOS Currents Muscular Dystrophy - March 27, 2018 Category: Neurology Authors: Steve J Winder Source Type: research

Are Soy Products Effective in DMD?
Conclusion From the data obtained in this study, we saw no beneficial effect of Haelan 951 or isoflavones, and only Bowman-Birk Inhibitor alone produced any significant improvement in muscle function. Further studies into the dose-activity relationship of BBI and isoflavones in mdx mice are therefore clearly warranted. Competing Interests Statement G Marston declares that no competing interests exist. SJ Winder is a member of the Editorial Board of PLOS Currents Muscular Dystrophy. However he he took no part in the peer review or editorial decision making with respect to this manuscript. Appendix 1. Metadata for the stud...
Source: PLOS Currents Muscular Dystrophy - March 27, 2018 Category: Neurology Authors: Gemma Marston Source Type: research

The Relationship Between Bone Mineral Density and Cardiovascular Function in Duchenne Muscular Dystrophy: A Retrospective Cohort Study
In this study, we explored the relationship between BMD and cardiovascular health, and observed no association between BMD and LVEF. The primary results were in the opposite direction than the hypothesized direction, with the model beta coefficient for BMD indicating a negative relationship with LVEF; however, the size of the effect BMD had on LVEF was very small and not statistically significant. The secondary linear regression analyses provided consistent results with the primary linear regression, indicating that the primary results are sensitive to a variety of slightly modified conditions. It is possible that the nu...
Source: PLOS Currents Muscular Dystrophy - March 22, 2018 Category: Neurology Authors: Tara Anne Kervin Source Type: research

Collective Statement Regarding Patient Access to Approved Therapies from the Center Directors of Parent Project Muscular Dystrophy ’s Certified Duchenne Care Centers
Conclusion Recent health insurance policies for DMD products have been constructed with limited input from neuromuscular specialists directly involved in patient care and without patient input. In order to ensure that policy determinations reflect best clinical practice, we implore insurers to work with neuromuscular specialists leading the PPMD Certified Duchenne Care Center teams, as well as patients and families, in developing policies. We represent a collective body of clinicians and clinical investigators, leading the world’s DMD care, registries, clinical trials, research, and natural history studies. We are commit...
Source: PLOS Currents Muscular Dystrophy - March 15, 2018 Category: Neurology Authors: Cristian Ionita Source Type: research

A Review of Mathematical Models for Muscular Dystrophy: A Systems Biology Approach
Discussion With new developments in computational power and data availability, a growing amount of research is using a systems biology approach to understand pathogenesis and progression of disease. Effective and integrated in vitro and in silico models could inform biological phenomena, even without the need of a living subject. For instance, over the last few decades, collagen hydrogel with muscle derived cells (CHMDCs) have promised to revolutionize in vitro experiments and tissue engineering. For CHMDCs to reach the envisioned use, verification by use of mathematical simulations are needed. Recently while examining sha...
Source: PLOS Currents Muscular Dystrophy - February 16, 2018 Category: Neurology Authors: Matthew Houston Source Type: research

Epigenetic Regulators Modulate Muscle Damage in Duchenne Muscular Dystrophy Model
This study shows for the first time that either CBP overexpression or pan-HDAC inhibition are able to prevent, or at least delay, early stages of muscle damage in zebrafish dystrophic muscles. This observation adds up to the recognised positive effect of HDAC inhibitors on muscle regeneration upon damage 1. Other authors observed that treating mouse dystrophic muscles (mdx) with deacetylase inhibitors was able to confer resistance to contraction-coupled degeneration 14. However, this was suggested to be mediated by follistatin through satellite cell number increase. We show that damage protection occurs independently from ...
Source: PLOS Currents Muscular Dystrophy - December 21, 2017 Category: Neurology Authors: fbajanca Source Type: research

Influenza A Virus Infection Damages Zebrafish Skeletal Muscle and Exacerbates Disease in Zebrafish Modeling Duchenne Muscular Dystrophy
DISCUSSION Here, we investigated the effects of an infectious disease on skeletal muscle tissue alone and in combination with a genetic muscle disease. We found that human IAV can infect zebrafish muscle fibers and cause fiber damage via loss of sarcolemma integrity and/or loss of ECM adhesion external to the sarcolemma. Additionally, we showed that molecular and cellular markers of inflammation are present in muscle tissue in response to IAV infection. Finally, we showed that an infectious disease in combination with a genetic muscle disease greatly worsens the severity of muscle tissue degeneration. Taken together, our r...
Source: PLOS Currents Muscular Dystrophy - October 25, 2017 Category: Neurology Authors: Clarissa Henry Source Type: research

Benefits of Prenatal Taurine Supplementation in Preventing the Onset of Acute Damage in the Mdx Mouse
Conclusions The mdx mouse is an invaluable tool to study both the mechanisms of dystrophic damage, and assess potential therapeutic supplements and therapies to remedy the severity of DMD. The age dependent disease severity of the mdx mouse affords the unique opportunity for both the assessment of therapies to prevent or delay dystrophic symptoms (21 – 28 d), as well as treat the established disease state (70 d). This study demonstrates prenatal taurine supplementation to be efficacious at ameliorating muscle weakness and improving histological characteristics in the mdx mouse model of DMD during the acute stage myof...
Source: PLOS Currents Muscular Dystrophy - September 22, 2017 Category: Neurology Authors: Robyn Murphy Source Type: research

Benefits of Pre-natal Taurine Supplementation in Preventing the Onset of Acute Damage in the Mdx Mouse
Conclusions The mdx mouse is an invaluable tool to study both the mechanisms of dystrophic damage, and assess potential therapeutic supplements and therapies to remedy the severity of DMD. The age dependent disease severity of the mdx mouse affords the unique opportunity for both the assessment of therapies to prevent or delay dystrophic symptoms (21 – 28 d), as well as treat the established disease state (70 d). This study demonstrates pre-natal taurine supplementation to be efficacious at ameliorating muscle weakness and improving histological characteristics in the mdx mouse model of DMD during the acute stage myo...
Source: PLOS Currents Muscular Dystrophy - September 22, 2017 Category: Neurology Authors: Robyn Murphy Source Type: research